FRYNS SYNDROME: FURTHER DELINEATION AND ANTENATAL DIAGNOSIS

Fryns syndrome has a clinically distinct pattern of abnormalities which appears to be inherited as an autosomal recessive trait. In the six previously reported cases, the syndrome has been characterized by diaphragmatic hernia or eventration, hypoplasia of the distal phalanges and nails and dysmorphic facial features including fronto-nasal broadening, macrostomia, coarse fades and abnormal ears. All previously reported cases have been stillborn or have died in the neonatal period. We report two siblings with features consistant with Fryns syndrome. Previously undescribed features found in both infants Include omphalocele and imperforate or anteriorly displaced anus. Previously undescribed radiological abnormalities include broadening of the ribs and clavicles. The first case was stillborn at 27 weeks gestation. During the second pregnancy, ultrasonographic demonstration of omphalocele, facial cleft and diaphragmatic hernia, together with a raised maternal serum alpha fetoprotein allowed accurate prenatal diagnosis at 18 weeks gestation. Cytogenetic studies on both cases were normal. Recognition of this syndrome is important for obstetrical and pediatric management and for genetic counseling.